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Immunodeficiency 35(IMD35)

MedGen UID:
409751
•Concept ID:
C1969086
•
Disease or Syndrome
Synonyms: Familial Atypical Mycobacteriosis, TYK2-Related; HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; IMD35; Susceptibility to infection due to TYK2 deficiency; TYK2 DEFICIENCY; Tyrosine kinase 2 deficiency
SNOMED CT: Autosomal recessive hyper-IgE (immunoglobulin E) syndrome due to TYK2 deficiency (1197415001); Susceptibility to infection due to TYK2 deficiency (1197415001); Susceptibility to infection due to tyrosine kinase 2 deficiency (1197415001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): TYK2 (19p13.2)
 
Monarch Initiative: MONDO:0012682
OMIM®: 611521
Orphanet: ORPHA331226

Definition

Immunodeficiency-35 (IMD35) is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to localized or disseminated mycobacterial infection after BCG vaccination. Some patients may have increased susceptibility to infection with other intracellular organisms and/or viral infections. Fungal infections are not observed. Laboratory studies show normal levels of immune cells but defective signaling in specific immunologic pathways (summary by Kreins et al., 2015). [from OMIM]

Clinical features

From HPO
Recurrent respiratory infections
MedGen UID:
812812
•Concept ID:
C3806482
•
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
See: Feature record | Search on this feature
Immunodeficiency
MedGen UID:
7034
•Concept ID:
C0021051
•
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
See: Feature record | Search on this feature
Increased circulating IgE concentration
MedGen UID:
116018
•Concept ID:
C0236175
•
Finding
An abnormally increased overall level of immunoglobulin E in blood.
See: Feature record | Search on this feature
Recurrent viral infections
MedGen UID:
332357
•Concept ID:
C1837066
•
Finding
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
See: Feature record | Search on this feature
Recurrent fungal infections
MedGen UID:
336166
•Concept ID:
C1844384
•
Disease or Syndrome
Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
See: Feature record | Search on this feature
Recurrent mycobacterial infections
MedGen UID:
869021
•Concept ID:
C4023438
•
Finding
Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency 35
Follow this link to review classifications for Immunodeficiency 35 in Orphanet.

Professional guidelines

PubMed

International Anal Neoplasia Society's consensus guidelines for anal cancer screening.
Stier EA, Clarke MA, Deshmukh AA, Wentzensen N, Liu Y, Poynten IM, Cavallari EN, Fink V, Barroso LF, Clifford GM, Cuming T, Goldstone SE, Hillman RJ, Rosa-Cunha I, La Rosa L, Palefsky JM, Plotzker R, Roberts JM, Jay N
Int J Cancer 2024 May 15;154(10):1694-1702. Epub 2024 Jan 31 doi: 10.1002/ijc.34850. PMID: 38297406
Diagnosis and treatment of tuberculosis in adults with HIV.
Yang Q, Han J, Shen J, Peng X, Zhou L, Yin X
Medicine (Baltimore) 2022 Sep 2;101(35):e30405. doi: 10.1097/MD.0000000000030405. PMID: 36107594Free PMC Article
Megestrol acetate for treatment of anorexia-cachexia syndrome.
Ruiz Garcia V, López-Briz E, Carbonell Sanchis R, Gonzalvez Perales JL, Bort-Marti S
Cochrane Database Syst Rev 2013 Mar 28;2013(3):CD004310. doi: 10.1002/14651858.CD004310.pub3. PMID: 23543530Free PMC Article

Recent clinical studies

Etiology

Progress in the field of hematopoietic stem cell-based therapies for inborn errors of immunity.
Arnold DE, Pai SY
Curr Opin Pediatr 2023 Dec 1;35(6):663-670. Epub 2023 Sep 21 doi: 10.1097/MOP.0000000000001292. PMID: 37732933Free PMC Article
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD
Lancet 2023 Jul 8;402(10396):129-140. Epub 2023 Jun 20 doi: 10.1016/S0140-6736(23)00731-6. PMID: 37352885Free PMC Article
Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.
Stohl W, Schwarting A, Okada M, Scheinberg M, Doria A, Hammer AE, Kleoudis C, Groark J, Bass D, Fox NL, Roth D, Gordon D
Arthritis Rheumatol 2017 May;69(5):1016-1027. Epub 2017 Apr 7 doi: 10.1002/art.40049. PMID: 28118533Free PMC Article
Rheumatologic manifestations of primary immunodeficiency diseases.
Dimitriades VR, Sorensen R
Clin Rheumatol 2016 Apr;35(4):843-50. Epub 2016 Mar 14 doi: 10.1007/s10067-016-3229-6. PMID: 26971790
Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.
Abbott JK, Gelfand EW
Immunol Allergy Clin North Am 2015 Nov;35(4):637-58. Epub 2015 Sep 4 doi: 10.1016/j.iac.2015.07.009. PMID: 26454311

Diagnosis

Progress in the field of hematopoietic stem cell-based therapies for inborn errors of immunity.
Arnold DE, Pai SY
Curr Opin Pediatr 2023 Dec 1;35(6):663-670. Epub 2023 Sep 21 doi: 10.1097/MOP.0000000000001292. PMID: 37732933Free PMC Article
Primary Immunodeficiency Disorders.
Montanaro A
Immunol Allergy Clin North Am 2015 Nov;35(4):ix-x. Epub 2015 Aug 11 doi: 10.1016/j.iac.2015.07.011. PMID: 26454319
Specific Antibody Deficiencies.
Wall LA, Dimitriades VR, Sorensen RU
Immunol Allergy Clin North Am 2015 Nov;35(4):659-70. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.003. PMID: 26454312
Common Variable Immunodeficiency: Diagnosis, Management, and Treatment.
Abbott JK, Gelfand EW
Immunol Allergy Clin North Am 2015 Nov;35(4):637-58. Epub 2015 Sep 4 doi: 10.1016/j.iac.2015.07.009. PMID: 26454311
Overview of Immunodeficiency Disorders.
Raje N, Dinakar C
Immunol Allergy Clin North Am 2015 Nov;35(4):599-623. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.001. PMID: 26454309Free PMC Article

Therapy

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome.
Badolato R, Alsina L, Azar A, Bertrand Y, Bolyard AA, Dale D, Deyà-Martínez À, Dickerson KE, Ezra N, Hasle H, Kang HJ, Kiani-Alikhan S, Kuijpers TW, Kulagin A, Langguth D, Levin C, Neth O, Olbrich P, Peake J, Rodina Y, Rutten CE, Shcherbina A, Tarrant TK, Vossen MG, Wysocki CA, Belschner A, Bridger GJ, Chen K, Dubuc S, Hu Y, Jiang H, Li S, MacLeod R, Stewart M, Taveras AG, Yan T, Donadieu J
Blood 2024 Jul 4;144(1):35-45. doi: 10.1182/blood.2023022658. PMID: 38643510Free PMC Article
Single High Dose of Liposomal Amphotericin B in Human Immunodeficiency Virus/AIDS-Related Disseminated Histoplasmosis: A Randomized Trial.
Pasqualotto AC, Lana DD, Godoy CSM, Leitão TDMJS, Bay MB, Damasceno LS, Soares RBA, Kist R, Silva LR, Wiltgen D, Melo M, Guimarães TF, Guimarães MR, Vechi HT, de Mesquita JRL, Monteiro GRG, Adenis A, Bahr NC, Spec A, Boulware DR, Israelski D, Chiller T, Falci DR
Clin Infect Dis 2023 Oct 13;77(8):1126-1132. doi: 10.1093/cid/ciad313. PMID: 37232940Free PMC Article
HIV/AIDS Vaccines: 2018.
Robinson HL
Clin Pharmacol Ther 2018 Dec;104(6):1062-1073. Epub 2018 Oct 9 doi: 10.1002/cpt.1208. PMID: 30099743Free PMC Article
Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.
Stohl W, Schwarting A, Okada M, Scheinberg M, Doria A, Hammer AE, Kleoudis C, Groark J, Bass D, Fox NL, Roth D, Gordon D
Arthritis Rheumatol 2017 May;69(5):1016-1027. Epub 2017 Apr 7 doi: 10.1002/art.40049. PMID: 28118533Free PMC Article
Megestrol acetate for treatment of anorexia-cachexia syndrome.
Ruiz Garcia V, López-Briz E, Carbonell Sanchis R, Gonzalvez Perales JL, Bort-Marti S
Cochrane Database Syst Rev 2013 Mar 28;2013(3):CD004310. doi: 10.1002/14651858.CD004310.pub3. PMID: 23543530Free PMC Article

Prognosis

HIV infection and its effects on the development of autoimmune disorders.
Vega LE, Espinoza LR
Pharmacol Res 2018 Mar;129:1-9. Epub 2018 Jan 10 doi: 10.1016/j.phrs.2018.01.005. PMID: 29331332
Cardiac Disease Associated with Human Immunodeficiency Virus Infection.
Bloomfield GS, Leung C
Cardiol Clin 2017 Feb;35(1):59-70. doi: 10.1016/j.ccl.2016.09.003. PMID: 27886790
Overview of Immunodeficiency Disorders.
Raje N, Dinakar C
Immunol Allergy Clin North Am 2015 Nov;35(4):599-623. Epub 2015 Aug 25 doi: 10.1016/j.iac.2015.07.001. PMID: 26454309Free PMC Article
Global epidemiology of HIV.
Fettig J, Swaminathan M, Murrill CS, Kaplan JE
Infect Dis Clin North Am 2014 Sep;28(3):323-37. doi: 10.1016/j.idc.2014.05.001. PMID: 25151559Free PMC Article
Immunodeficiency overview.
Morimoto Y, Routes JM
Prim Care 2008 Mar;35(1):159-73, viii. doi: 10.1016/j.pop.2007.09.004. PMID: 18206723

Clinical prediction guides

A phase 3 randomized trial of mavorixafor, a CXCR4 antagonist, for WHIM syndrome.
Badolato R, Alsina L, Azar A, Bertrand Y, Bolyard AA, Dale D, Deyà-Martínez À, Dickerson KE, Ezra N, Hasle H, Kang HJ, Kiani-Alikhan S, Kuijpers TW, Kulagin A, Langguth D, Levin C, Neth O, Olbrich P, Peake J, Rodina Y, Rutten CE, Shcherbina A, Tarrant TK, Vossen MG, Wysocki CA, Belschner A, Bridger GJ, Chen K, Dubuc S, Hu Y, Jiang H, Li S, MacLeod R, Stewart M, Taveras AG, Yan T, Donadieu J
Blood 2024 Jul 4;144(1):35-45. doi: 10.1182/blood.2023022658. PMID: 38643510Free PMC Article
The effects of a training program for reducing nurses' discrimination towards PLWHAs.
Ju X, Tan S, Wang T
Medicine (Baltimore) 2022 Oct 14;101(41):e31105. doi: 10.1097/MD.0000000000031105. PMID: 36254057Free PMC Article
Cytometric analysis and clinical features in a Moroccan cohort with severe combined immunodeficiency.
El Allam A, El Fakihi S, Tahoune H, Sahmoudi K, Bousserhane H, Bakri Y, El Hafidi N, Seghrouchni F
Hum Antibodies 2022;30(2):67-77. doi: 10.3233/HAB-211510. PMID: 35094990
Altered DNA ligase activity in human disease.
Tomkinson AE, Naila T, Khattri Bhandari S
Mutagenesis 2020 Feb 13;35(1):51-60. doi: 10.1093/mutage/gez026. PMID: 31630206Free PMC Article
Efficacy and Safety of Subcutaneous Belimumab in Systemic Lupus Erythematosus: A Fifty-Two-Week Randomized, Double-Blind, Placebo-Controlled Study.
Stohl W, Schwarting A, Okada M, Scheinberg M, Doria A, Hammer AE, Kleoudis C, Groark J, Bass D, Fox NL, Roth D, Gordon D
Arthritis Rheumatol 2017 May;69(5):1016-1027. Epub 2017 Apr 7 doi: 10.1002/art.40049. PMID: 28118533Free PMC Article

Recent systematic reviews

The Global, Regional, and National Burden of Adult Lip, Oral, and Pharyngeal Cancer in 204 Countries and Territories: A Systematic Analysis for the Global Burden of Disease Study 2019.
GBD 2019 Lip, Oral, and Pharyngeal Cancer Collaborators, Cunha ARD, Compton K, Xu R, Mishra R, Drangsholt MT, Antunes JLF, Kerr AR, Acheson AR, Lu D, Wallace LE, Kocarnik JM, Fu W, Dean FE, Pennini A, Henrikson HJ, Alam T, Ababneh E, Abd-Elsalam S, Abdoun M, Abidi H, Abubaker Ali H, Abu-Gharbieh E, Adane TD, Addo IY, Ahmad A, Ahmad S, Ahmed Rashid T, Akonde M, Al Hamad H, Alahdab F, Alimohamadi Y, Alipour V, Al-Maweri SA, Alsharif U, Ansari-Moghaddam A, Anwar SL, Anyasodor AE, Arabloo J, Aravkin AY, Aruleba RT, Asaad M, Ashraf T, Athari SS, Attia S, Azadnajafabad S, Azangou-Khyavy M, Badar M, Baghcheghi N, Banach M, Bardhan M, Barqawi HJ, Bashir NZ, Bashiri A, Benzian H, Bernabe E, Bhagat DS, Bhojaraja VS, Bjørge T, Bouaoud S, Braithwaite D, Briko NI, Calina D, Carreras G, Chakraborty PA, Chattu VK, Chaurasia A, Chen MX, Cho WCS, Chu DT, Chukwu IS, Chung E, Cruz-Martins N, Dadras O, Dai X, Dandona L, Dandona R, Daneshpajouhnejad P, Darvishi Cheshmeh Soltani R, Darwesh AM, Debela SA, Derbew Molla M, Dessalegn FN, Dianati-Nasab M, Digesa LE, Dixit SG, Dixit A, Djalalinia S, El Sayed I, El Tantawi M, Enyew DB, Erku DA, Ezzeddini R, Fagbamigbe AF, Falzone L, Fetensa G, Fukumoto T, Gaewkhiew P, Gallus S, Gebrehiwot M, Ghashghaee A, Gill PS, Golechha M, Goleij P, Gomez RS, Gorini G, Guimaraes ALS, Gupta B, Gupta S, Gupta VB, Gupta VK, Haj-Mirzaian A, Halboub ES, Halwani R, Hanif A, Hariyani N, Harorani M, Hasani H, Hassan AM, Hassanipour S, Hassen MB, Hay SI, Hayat K, Herrera-Serna BY, Holla R, Horita N, Hosseinzadeh M, Hussain S, Ilesanmi OS, Ilic IM, Ilic MD, Isola G, Jaiswal A, Jani CT, Javaheri T, Jayarajah U, Jayaram S, Joseph N, Kadashetti V, Kandaswamy E, Karanth SD, Karaye IM, Kauppila JH, Kaur H, Keykhaei M, Khader YS, Khajuria H, Khanali J, Khatib MN, Khayat Kashani HR, Khazeei Tabari MA, Kim MS, Kompani F, Koohestani HR, Kumar GA, Kurmi OP, La Vecchia C, Lal DK, Landires I, Lasrado S, Ledda C, Lee YH, Libra M, Lim SS, Listl S, Lopukhov PD, Mafi AR, Mahumud RA, Malik AA, Mathur MR, Maulud SQ, Meena JK, Mehrabi Nasab E, Mestrovic T, Mirfakhraie R, Misganaw A, Misra S, Mithra P, Mohammad Y, Mohammadi M, Mohammadi E, Mokdad AH, Moni MA, Moraga P, Morrison SD, Mozaffari HR, Mubarik S, Murray CJL, Nair TS, Narasimha Swamy S, Narayana AI, Nassereldine H, Natto ZS, Nayak BP, Negru SM, Nggada HA, Nouraei H, Nuñez-Samudio V, Oancea B, Olagunju AT, Omar Bali A, Padron-Monedero A, Padubidri JR, Pandey A, Pardhan S, Patel J, Pezzani R, Piracha ZZ, Rabiee N, Radhakrishnan V, Radhakrishnan RA, Rahmani AM, Rahmanian V, Rao CR, Rao SJ, Rath GK, Rawaf DL, Rawaf S, Rawassizadeh R, Razeghinia MS, Rezaei N, Rezaei N, Rezaei N, Rezapour A, Riad A, Roberts TJ, Romero-Rodríguez E, Roshandel G, S M, S N C, Saddik B, Saeb MR, Saeed U, Safaei M, Sahebazzamani M, Sahebkar A, Salek Farrokhi A, Samy AM, Santric-Milicevic MM, Sathian B, Satpathy M, Šekerija M, Senthilkumaran S, Seylani A, Shafaat O, Shahsavari HR, Shamsoddin E, Sharew MM, Sharifi-Rad J, Shetty JK, Shivakumar KM, Shobeiri P, Shorofi SA, Shrestha S, Siddappa Malleshappa SK, Singh P, Singh JA, Singh G, Sinha DN, Solomon Y, Suleman M, Suliankatchi Abdulkader R, Taheri Abkenar Y, Talaat IM, Tan KK, Tbakhi A, Thiyagarajan A, Tiyuri A, Tovani-Palone MR, Unnikrishnan B, Vo B, Volovat SR, Wang C, Westerman R, Wickramasinghe ND, Xiao H, Yu C, Yuce D, Yunusa I, Zadnik V, Zare I, Zhang ZJ, Zoladl M, Force LM, Hugo FN
JAMA Oncol 2023 Oct 1;9(10):1401-1416. doi: 10.1001/jamaoncol.2023.2960. PMID: 37676656Free PMC Article
Treatment-related adverse events of antibody-drug conjugates in clinical trials: A systematic review and meta-analysis.
Zhu Y, Liu K, Wang K, Zhu H
Cancer 2023 Jan 15;129(2):283-295. Epub 2022 Nov 21 doi: 10.1002/cncr.34507. PMID: 36408673Free PMC Article
Global Burden of Atherosclerotic Cardiovascular Disease in People Living With HIV: Systematic Review and Meta-Analysis.
Shah ASV, Stelzle D, Lee KK, Beck EJ, Alam S, Clifford S, Longenecker CT, Strachan F, Bagchi S, Whiteley W, Rajagopalan S, Kottilil S, Nair H, Newby DE, McAllister DA, Mills NL
Circulation 2018 Sep 11;138(11):1100-1112. doi: 10.1161/CIRCULATIONAHA.117.033369. PMID: 29967196Free PMC Article
Megestrol acetate for treatment of anorexia-cachexia syndrome.
Ruiz Garcia V, López-Briz E, Carbonell Sanchis R, Gonzalvez Perales JL, Bort-Marti S
Cochrane Database Syst Rev 2013 Mar 28;2013(3):CD004310. doi: 10.1002/14651858.CD004310.pub3. PMID: 23543530Free PMC Article
Systematic review and meta-analysis of Saccharomyces boulardii in adult patients.
McFarland LV
World J Gastroenterol 2010 May 14;16(18):2202-22. doi: 10.3748/wjg.v16.i18.2202. PMID: 20458757Free PMC Article

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